Genomic profiling of multiple primary cancers including synchronous lung adenocarcinoma and bilateral malignant mesotheliomas: Identification of a novel <i>BAP1</i> germline variant

Shinozaki‐Ushiku, Aya; Kage, Hidenori; Oda, Katsutoshi; Miyagawa, Kiyoshi; Nakajima, Jun; Aburatani, Hiroyuki; Mano, Hiroyuki; Ushiku, Tetsuo

doi:10.1111/pin.12977

Cited by 10 publications

(10 citation statements)

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“…Although BAP1 loss is not often detected in LUAD [40], we did not detect BAP1 protein expression by IHC analysis. Our results shows that LUAD may be associated with BAP1-TPDS, as previously reported [29].…”

Section: Family Pd-578supporting

confidence: 91%

“…Although the tumor genome of sporadic mesothelioma patients has been extensively investigated, the tumor genome of patients affected by BAP1 -TPDS has yet to be systematically characterized. A single paper analyzed the genome of several metachronous tumors in a BAP1 -TPDS patient [ 29 ]. In a recent study involving 17,152 patients with different tumor types, Srinivasan et al reported some information of the somatic genome of six patients with TPDS [ 30 ].…”

Section: Introductionmentioning

confidence: 99%

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Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

et al. 2022

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Germline mutations in the tumor suppressor gene BRCA1-associated protein-1 (BAP1) lead to BAP1 tumor predisposition syndrome (BAP1-TPDS), characterized by high susceptibility to several tumor types, chiefly melanoma, mesothelioma, renal cell carcinoma, and basal cell carcinoma. Here, we present the results of our ten-year experience in the molecular diagnosis of BAP1-TPDS, along with a clinical update and cascade genetic testing of previously reported BAP1-TPDS patients and their relatives. Specifically, we sequenced germline DNA samples from 101 individuals with suspected BAP1-TPDS and validated pathogenic variants (PVs) by assessing BAP1 somatic loss in matching tumor specimens. Overall, we identified seven patients (7/101, 6.9%) carrying six different germline BAP1 PVs, including one novel variant. Consistently, cascade testing revealed a total of seven BAP1 PV carriers. In addition, we explored the mutational burden of BAP1-TPDS tumors by targeted next-generation sequencing. Lastly, we found that certain tumors present in PV carriers retain a wild-type BAP1 allele, suggesting a sporadic origin of these tumors or a functional role of heterozygous BAP1 in neoplastic development. Altogether, our findings have important clinical implications for therapeutic response of BAP1-TPDS patients.

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Section: Family Pd-578supporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

et al. 2022

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“…3. There is no extrathoracic metastasis [22,23] . In our study, we found no signs of metastasis on any PET/CT images, including lymph node metastasis and organ metastasis.…”

Section: Discussionmentioning

confidence: 94%

Application Value of Whole-Body Pet/ct and Contrast-enhanced Brain Mri in the Diagnosis and Treatment of Patients With Synchronous Multiple Pulmonary Ground-glass Nodules

Xie

Wang

et al. 2021

Preprint

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Background: Synchronous multiple ground-glass nodules (SMGGNs) in synchronous multiple lung cancers (SMLCs) are associated with specific imaging findings. It is difficult to distinguish whether multiple nodules are primary tumors or metastatic lesions in the lungs. The need for positron-emission tomography/computed tomography (PET/CT) and contrast-enhanced brain magnetic resonance imaging (MRI) for these patients remains unclear. This study investigated the necessity of these two imaging examinations for SMGGN patients by means of retrospective analysis. Methods: SMGGN patients who were diagnosed and treated in the Department of Thoracic Surgery in our hospital from October 2017 to May 2020 and underwent whole-body PET/CT and/or contrast-enhanced brain MRI examinations were enrolled in this study. We analyzed the imaging and clinical characteristics of these patients to evaluate SMGGN patients’ need to undergo whole-body PET/CT and brain MRI examination. Results: A total of 87 SMGGN patients (26 men and 61 women, with a median age of 58 years at onset) were enrolled. Fifty-one patients underwent whole-body PET/CT examinations and did not show signs of primary tumors in other organs, metastatic foci in other organs, or metastasis to surrounding lymph nodes. Eighty-seven patients underwent whole-brain MRI, which did not reveal brain metastases but did detect an old cerebral infarction in 23 patients and a new cerebral infarction in one patient. Eighty-seven patients underwent surgical treatment in which 219 nodules were removed. All nodules were diagnosed as adenocarcinoma or atypical adenomatous hyperplasia. No lymph node metastasis was noted. Conclusion: For SMGGN patients, it is not necessary to perform a whole-body PET/CT examination before surgery. Contrast-enhanced brain MRI can assess the patient’s cerebrovascular function before surgery and reduce the risk of perioperative cerebrovascular accidents. Thus, it is a necessary examination.

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“…3. There is no extrathoracic metastasis ( 17 , 18 ). In our study, we found no signs of metastasis on any PET/CT images, including lymph node metastasis and organ metastasis.…”

Section: Discussionmentioning

confidence: 99%

Application Value of PET/CT and MRI in the Diagnosis and Treatment of Patients With Synchronous Multiple Pulmonary Ground-Glass Nodules

Xie

Deng

et al. 2022

Front. Oncol.

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BackgroundSynchronous multiple ground-glass nodules (SMGGNs) in synchronous multiple lung cancers are associated with specific imaging findings. It is difficult to distinguish whether multiple nodules are primary tumors or metastatic lesions in the lungs. The need for PET/CT and contrast-enhanced brain MRI for these patients remains unclear. This study investigated the necessity of these two imaging examinations for SMGGN patients by means of retrospective analysis.MethodsSMGGN patients who were diagnosed and treated in our hospital from October 2017 to May 2020 and underwent whole-body PET/CT(Cranial excepted) and/or contrast-enhanced brain MRI+DWI were enrolled in this study. We analyzed the imaging and clinical characteristics of these patients to evaluate SMGGN patients’ need to undergo whole-body PET/CT and brain MRI examination.ResultsA total of 87 SMGGN patients were enrolled. 51 patients underwent whole-body PET/CT examinations and did not show signs of primary tumors in other organs, metastatic foci in other organs, or metastasis to surrounding lymph nodes. 87 patients underwent whole-brain MRI, which did not reveal brain metastases but did detect an old cerebral infarction in 23 patients and a new cerebral infarction in one patient. 87 patients underwent surgical treatment in which 219 nodules were removed. All nodules were diagnosed as adenocarcinoma or atypical adenomatous hyperplasia. No lymph node metastasis was noted.ConclusionFor SMGGN patients, PET/CT and enhanced cranial MRI are unnecessary for SMGGNs patients, but from the perspective of perioperative patient safety, preoperative MRI+DWI examination is recommended for SMGGNs patients.

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Genomic profiling of multiple primary cancers including synchronous lung adenocarcinoma and bilateral malignant mesotheliomas: Identification of a novel BAP1 germline variant

Cited by 10 publications

References 10 publications

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

Application Value of Whole-Body Pet/ct and Contrast-enhanced Brain Mri in the Diagnosis and Treatment of Patients With Synchronous Multiple Pulmonary Ground-glass Nodules

Application Value of PET/CT and MRI in the Diagnosis and Treatment of Patients With Synchronous Multiple Pulmonary Ground-Glass Nodules

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